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Self-supervised learning (SSL) has proven to be a powerful approach for extracting biologically meaningful representations from single-cell data. To advance our understanding of SSL methods applied to single-cell data, we present…

Quantitative Methods · Quantitative Biology 2025-06-13 Olga Ovcharenko , Florian Barkmann , Philip Toma , Imant Daunhawer , Julia Vogt , Sebastian Schelter , Valentina Boeva

Identifying cell clusters is a critical step for single-cell transcriptomics study. Despite the numerous clustering tools developed recently, the rapid growth of scRNA-seq volumes prompts for a more (computationally) efficient clustering…

Quantitative Methods · Quantitative Biology 2023-01-11 Nana Wei , Yating Nie , Lin Liu , Xiaoqi Zheng , Hua-Jun Wu4

Single-cell RNA sequencing (scRNA-seq) data analysis is pivotal for understanding cellular heterogeneity. However, the high sparsity and complex noise patterns inherent in scRNA-seq data present significant challenges for traditional…

Genomics · Quantitative Biology 2024-08-13 Wenwen Min , Zhen Wang , Fangfang Zhu , Taosheng Xu , Shunfang Wang

The imputation of missing values in multivariate time series (MTS) data is critical in ensuring data quality and producing reliable data-driven predictive models. Apart from many statistical approaches, a few recent studies have proposed…

Machine Learning · Computer Science 2023-05-17 Maksims Kazijevs , Manar D. Samad

Data imputation, the process of filling in missing feature elements for incomplete data sets, plays a crucial role in data-driven learning. A fundamental belief is that data imputation is helpful for learning performance, and it follows…

Machine Learning · Computer Science 2025-09-30 Ruikai Yang , Fan He , Mingzhen He , Kaijie Wang , Xiaolin Huang

Next-generation RNA sequencing (RNA-seq) technology has been widely used to assess full-length RNA isoform abundance in a high-throughput manner. RNA-seq data offer insight into gene expression levels and transcriptome structures, enabling…

Applications · Statistics 2021-12-01 Wei Vivian Li , Anqi Zhao , Shihua Zhang , Jingyi Jessica Li

We introduce a novel gene regulatory network (GRN) inference method that integrates optimal transport (OT) with a deep-learning structural inference model. Advances in next-generation sequencing enable detailed yet destructive gene…

Computational Engineering, Finance, and Science · Computer Science 2024-09-24 Tsz Pan Tong , Aoran Wang , George Panagopoulos , Jun Pang

Alternative splicing is crucial in gene regulation, with significant implications in clinical settings and biotechnology. This review article compiles bioinformatics RNA-seq tools for investigating differential splicing; offering a detailed…

Genomics · Quantitative Biology 2024-09-10 Ben J Draper , Mark J Dunning , David C James

Objective: The proper handling of missing values is critical to delivering reliable estimates and decisions, especially in high-stakes fields such as clinical research. The increasing diversity and complexity of data have led many…

Motivation: High-throughput sequencing enables expression analysis at the level of individual transcripts. The analysis of transcriptome expression levels and differential expression estimation requires a probabilistic approach to properly…

Genomics · Quantitative Biology 2012-10-10 Peter Glaus , Antti Honkela , Magnus Rattray

As a powerful tool for characterizing cellular subpopulations and cellular heterogeneity, single cell RNA sequencing (scRNA-seq) technology offers advantages of high throughput and multidimensional analysis. However, the process of data…

Machine Learning · Computer Science 2024-11-19 Zhuorui Cui , Shengze Dong , Ding Liu

Single-cell RNA sequencing (scRNA-seq) has the potential to provide powerful, high-resolution signatures to inform disease prognosis and precision medicine. This paper takes an important first step towards this goal by developing an…

Quantitative Methods · Quantitative Biology 2021-10-15 Bryan He , Matthew Thomson , Meena Subramaniam , Richard Perez , Chun Jimmie Ye , James Zou

Self-supervised pretraining (SSP) has been recognized as a method to enhance prediction accuracy in various downstream tasks. However, its efficacy for DNA sequences remains somewhat constrained. This limitation stems primarily from the…

Machine Learning · Computer Science 2024-05-15 Tong Yu , Lei Cheng , Ruslan Khalitov , Erland Brandser Olsson , Zhirong Yang

The advent of DNA and RNA sequencing has revolutionized the study of genomics and molecular biology. Next generation sequencing (NGS) technologies like Illumina, Ion Torrent, SOLiD sequencing etc. have brought about a quick and cheap way to…

Genomics · Quantitative Biology 2021-03-26 Yun Heo , Gowthami Manikandan , Anand Ramachandran , Deming Chen

Advances in high-throughput sequencing technology have led to significant progress in measuring gene expressions at the single-cell level. The amount of publicly available single-cell RNA-seq (scRNA-seq) data is already surpassing 50M…

Machine Learning · Computer Science 2024-02-27 Jing Gong , Minsheng Hao , Xingyi Cheng , Xin Zeng , Chiming Liu , Jianzhu Ma , Xuegong Zhang , Taifeng Wang , Le Song

Cataloging the neuronal cell types that comprise circuitry of individual brain regions is a major goal of modern neuroscience and the BRAIN initiative. Single-cell RNA sequencing can now be used to measure the gene expression profiles of…

Genotype imputation enhances genetic data by predicting missing SNPs using reference haplotype information. Traditional methods leverage linkage disequilibrium (LD) to infer untyped SNP genotypes, relying on the similarity of LD structures…

Genomics · Quantitative Biology 2024-07-15 Aaron Ge , Jeya Balasubramanian , Xueyao Wu , Peter Kraft , Jonas S. Almeida

Single-cell data analysis has the potential to revolutionize personalized medicine by characterizing disease-associated molecular changes at the single-cell level. Advanced single-cell multimodal assays can now simultaneously measure…

Quantitative Methods · Quantitative Biology 2026-01-05 Ali Anaissi , Seid Miad Zandavi , Weidong Huang , Junaid Akram , Basem Suleiman , Ali Braytee , Jie Hua

Single-cell RNA sequencing (scRNA-seq) enables high-resolution analysis of cellular heterogeneity, but its complexity, which is marked by high dimensionality, sparsity, and batch effects, which poses major computational challenges.…

Computation and Language · Computer Science 2026-03-25 Cong Qi , Hanzhang Fang , Siqi Jiang , Xun Song , Tianxing Hu , Wei Zhi

Given the prevalence of missing data in modern statistical research, a broad range of methods is available for any given imputation task. How does one choose the `best' imputation method in a given application? The standard approach is to…

Applications · Statistics 2022-12-01 Jeffrey Näf , Meta-Lina Spohn , Loris Michel , Nicolai Meinshausen
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